Incidental Mutation 'IGL02340:Or5d46'
ID 289053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5d46
Ensembl Gene ENSMUSG00000050023
Gene Name olfactory receptor family 5 subfamily D member 46
Synonyms Olfr1176, MOR174-5, GA_x6K02T2Q125-49824309-49825256
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02340
Quality Score
Status
Chromosome 2
Chromosomal Location 88169911-88170858 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 88169906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]
AlphaFold Q8VG40
Predicted Effect probably benign
Transcript: ENSMUST00000057439
SMART Domains Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:7tm_4 32 309 5.3e-46 PFAM
Pfam:7tm_1 42 291 4.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137895
Predicted Effect probably benign
Transcript: ENSMUST00000213778
Predicted Effect probably benign
Transcript: ENSMUST00000216713
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,328,824 (GRCm39) I182N probably damaging Het
Alpk3 A G 7: 80,728,255 (GRCm39) T462A probably benign Het
Amz1 A G 5: 140,738,014 (GRCm39) R425G probably damaging Het
Aoc2 A G 11: 101,217,201 (GRCm39) E428G probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Chchd6 A T 6: 89,396,762 (GRCm39) H216Q probably damaging Het
Chl1 A G 6: 103,675,086 (GRCm39) Y591C probably damaging Het
Cln8 T C 8: 14,945,178 (GRCm39) L164S probably damaging Het
Dscaml1 T C 9: 45,581,474 (GRCm39) I431T possibly damaging Het
Fam234b T C 6: 135,208,659 (GRCm39) L524P probably damaging Het
Fmo1 T C 1: 162,660,559 (GRCm39) N410S probably benign Het
Ftsj3 G A 11: 106,143,972 (GRCm39) R251* probably null Het
Greb1l A T 18: 10,515,200 (GRCm39) D555V probably damaging Het
Hcar1 G T 5: 124,017,135 (GRCm39) H185Q probably damaging Het
Kcnj12 G A 11: 60,960,319 (GRCm39) V206I probably benign Het
Lamc3 G A 2: 31,808,469 (GRCm39) G742S probably damaging Het
Lipg T C 18: 75,093,946 (GRCm39) probably null Het
Ltbp2 A G 12: 84,839,729 (GRCm39) probably null Het
Mcm3ap T G 10: 76,332,386 (GRCm39) Y1234* probably null Het
Myh6 T A 14: 55,194,612 (GRCm39) D719V possibly damaging Het
Myo9b A G 8: 71,743,689 (GRCm39) N250S probably damaging Het
Nherf1 A G 11: 115,070,858 (GRCm39) E270G probably benign Het
Notch2 G A 3: 98,054,652 (GRCm39) W2438* probably null Het
Nphp1 G A 2: 127,621,987 (GRCm39) Q47* probably null Het
Nptx2 T C 5: 144,493,056 (GRCm39) L381P probably damaging Het
Nrxn3 A G 12: 90,171,402 (GRCm39) N911S possibly damaging Het
Or10j2 A T 1: 173,097,972 (GRCm39) I77F probably benign Het
P4ha1 T A 10: 59,188,023 (GRCm39) F260Y probably benign Het
Pitpnm2 T C 5: 124,268,676 (GRCm39) D504G probably damaging Het
Prss54 A G 8: 96,292,237 (GRCm39) V114A probably benign Het
Ptprc G A 1: 137,998,957 (GRCm39) T1031M probably damaging Het
Rtf2 T C 2: 172,310,511 (GRCm39) probably benign Het
Ryr3 A G 2: 112,777,349 (GRCm39) probably benign Het
Slc14a2 C T 18: 78,206,341 (GRCm39) E492K probably damaging Het
Stab1 G T 14: 30,862,367 (GRCm39) N2322K probably damaging Het
Thsd7b A G 1: 130,087,369 (GRCm39) N1162S probably benign Het
Tmprss11b T C 5: 86,810,090 (GRCm39) I297V probably benign Het
Tnn T C 1: 159,972,775 (GRCm39) N276D probably benign Het
Trhde A T 10: 114,428,118 (GRCm39) probably benign Het
Vmn1r115 T A 7: 20,578,453 (GRCm39) H153L possibly damaging Het
Vmn1r203 T A 13: 22,708,997 (GRCm39) C259* probably null Het
Xpot T A 10: 121,451,109 (GRCm39) E97V probably damaging Het
Zbtb2 T C 10: 4,318,712 (GRCm39) D438G probably damaging Het
Other mutations in Or5d46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Or5d46 APN 2 88,170,771 (GRCm39) missense probably damaging 1.00
IGL02166:Or5d46 APN 2 88,170,022 (GRCm39) missense probably damaging 0.97
IGL02598:Or5d46 APN 2 88,170,595 (GRCm39) missense possibly damaging 0.64
IGL03069:Or5d46 APN 2 88,170,643 (GRCm39) splice site probably null
IGL03212:Or5d46 APN 2 88,170,016 (GRCm39) missense probably damaging 1.00
R1959:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R1960:Or5d46 UTSW 2 88,170,545 (GRCm39) missense probably damaging 1.00
R2907:Or5d46 UTSW 2 88,170,827 (GRCm39) missense probably benign 0.11
R2908:Or5d46 UTSW 2 88,170,827 (GRCm39) missense probably benign 0.11
R4049:Or5d46 UTSW 2 88,174,144 (GRCm39) splice site probably null
R4257:Or5d46 UTSW 2 88,170,621 (GRCm39) missense probably damaging 1.00
R4823:Or5d46 UTSW 2 88,170,179 (GRCm39) missense probably damaging 0.96
R4897:Or5d46 UTSW 2 88,174,686 (GRCm39) missense possibly damaging 0.89
R5106:Or5d46 UTSW 2 88,170,454 (GRCm39) missense probably benign 0.07
R5192:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5196:Or5d46 UTSW 2 88,170,092 (GRCm39) missense possibly damaging 0.94
R5331:Or5d46 UTSW 2 88,170,332 (GRCm39) missense probably damaging 1.00
R5579:Or5d46 UTSW 2 88,170,757 (GRCm39) missense possibly damaging 0.83
R6283:Or5d46 UTSW 2 88,170,002 (GRCm39) missense probably benign 0.33
R6702:Or5d46 UTSW 2 88,170,586 (GRCm39) missense probably benign 0.02
R8155:Or5d46 UTSW 2 88,170,296 (GRCm39) missense probably damaging 0.98
R8904:Or5d46 UTSW 2 88,169,949 (GRCm39) missense possibly damaging 0.82
R9094:Or5d46 UTSW 2 88,170,248 (GRCm39) missense probably benign 0.00
R9443:Or5d46 UTSW 2 88,170,364 (GRCm39) missense probably damaging 1.00
R9598:Or5d46 UTSW 2 88,170,821 (GRCm39) missense possibly damaging 0.88
R9719:Or5d46 UTSW 2 88,169,928 (GRCm39) missense
Posted On 2015-04-16